Incidental Mutation 'R1930:Cntn3'
| ID |
215269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntn3
|
| Ensembl Gene |
ENSMUSG00000030075 |
| Gene Name |
contactin 3 |
| Synonyms |
Pang |
| MMRRC Submission |
039948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1930 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
102140265-102541575 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 102219014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 535
(W535*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032159]
[ENSMUST00000203619]
|
| AlphaFold |
Q07409 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032159
AA Change: W535*
|
| SMART Domains |
Protein: ENSMUSP00000032159
Gene: ENSMUSG00000030075
AA Change: W535*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203619
AA Change: W535*
|
| SMART Domains |
Protein: ENSMUSP00000145176
Gene: ENSMUSG00000030075
AA Change: W535*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IGc2
|
41 |
107 |
1.85e-7 |
SMART |
|
IG
|
129 |
217 |
1.82e-6 |
SMART |
|
IGc2
|
240 |
304 |
6.8e-15 |
SMART |
|
IGc2
|
330 |
393 |
1.74e-12 |
SMART |
|
IGc2
|
422 |
486 |
1.53e-8 |
SMART |
|
IG
|
506 |
595 |
5.2e-11 |
SMART |
|
FN3
|
598 |
684 |
3.4e-13 |
SMART |
|
FN3
|
701 |
787 |
5.36e-2 |
SMART |
|
FN3
|
803 |
888 |
4.63e-6 |
SMART |
|
FN3
|
903 |
983 |
1.07e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
T |
A |
7: 43,900,540 (GRCm39) |
D148E |
probably damaging |
Het |
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| 4933430I17Rik |
A |
T |
4: 62,450,519 (GRCm39) |
D31V |
possibly damaging |
Het |
| Acsl1 |
C |
A |
8: 46,984,023 (GRCm39) |
A514E |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,326,124 (GRCm39) |
Y110C |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,301,891 (GRCm39) |
H27L |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,991,204 (GRCm39) |
I578N |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| AW011738 |
T |
C |
4: 156,287,997 (GRCm39) |
|
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Cav1 |
A |
T |
6: 17,339,331 (GRCm39) |
I139F |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,460,291 (GRCm39) |
|
probably null |
Het |
| Chrnb1 |
A |
G |
11: 69,683,563 (GRCm39) |
L261P |
possibly damaging |
Het |
| Col4a4 |
A |
C |
1: 82,444,321 (GRCm39) |
|
probably null |
Het |
| Daam2 |
A |
T |
17: 49,769,241 (GRCm39) |
|
probably null |
Het |
| Ddx23 |
G |
A |
15: 98,548,599 (GRCm39) |
R370W |
possibly damaging |
Het |
| Dgkh |
T |
C |
14: 78,853,945 (GRCm39) |
I265V |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,666,074 (GRCm39) |
K306R |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,497,265 (GRCm39) |
T4250M |
possibly damaging |
Het |
| Fezf1 |
T |
G |
6: 23,246,906 (GRCm39) |
I309L |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,795,580 (GRCm39) |
K206E |
probably damaging |
Het |
| Glt8d2 |
G |
T |
10: 82,500,476 (GRCm39) |
S91R |
probably benign |
Het |
| H2-Oa |
A |
T |
17: 34,312,873 (GRCm39) |
H50L |
possibly damaging |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,643 (GRCm39) |
Y369H |
possibly damaging |
Het |
| Hspg2 |
T |
A |
4: 137,267,541 (GRCm39) |
S2050T |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,202 (GRCm39) |
S961R |
probably benign |
Het |
| Ift20 |
G |
A |
11: 78,430,830 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,603,494 (GRCm39) |
F367I |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,728,514 (GRCm39) |
Q415L |
probably benign |
Het |
| Krtcap2 |
T |
A |
3: 89,154,383 (GRCm39) |
N35K |
probably damaging |
Het |
| Lgi3 |
T |
C |
14: 70,773,708 (GRCm39) |
V294A |
probably damaging |
Het |
| Lrp5 |
C |
T |
19: 3,660,131 (GRCm39) |
V978I |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,996,920 (GRCm39) |
D208E |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,853 (GRCm39) |
T147S |
probably benign |
Het |
| Mfsd4b1 |
C |
A |
10: 39,882,070 (GRCm39) |
A72S |
probably benign |
Het |
| Msln |
A |
T |
17: 25,970,896 (GRCm39) |
N150K |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,425,894 (GRCm39) |
V33A |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,398,555 (GRCm39) |
M1V |
probably null |
Het |
| Or4c3 |
G |
A |
2: 89,851,505 (GRCm39) |
R302C |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,223,745 (GRCm39) |
M81K |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,038,251 (GRCm39) |
Q269L |
probably benign |
Het |
| Pcnx2 |
C |
A |
8: 126,614,453 (GRCm39) |
V333L |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,755,778 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,733 (GRCm39) |
D737G |
possibly damaging |
Het |
| Ptgfr |
T |
A |
3: 151,540,831 (GRCm39) |
T226S |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Scgb2b20 |
T |
C |
7: 33,065,621 (GRCm39) |
|
probably null |
Het |
| Sdr16c6 |
A |
G |
4: 4,058,809 (GRCm39) |
V259A |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,194 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc51b |
T |
A |
9: 65,322,478 (GRCm39) |
E21V |
probably damaging |
Het |
| Slc8a3 |
G |
T |
12: 81,361,220 (GRCm39) |
T533N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spata3 |
A |
C |
1: 85,949,783 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,145,658 (GRCm39) |
D1101G |
probably damaging |
Het |
| Srf |
C |
A |
17: 46,860,912 (GRCm39) |
G401C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stradb |
A |
C |
1: 59,030,264 (GRCm39) |
N173H |
probably benign |
Het |
| Sugp1 |
T |
A |
8: 70,524,190 (GRCm39) |
D598E |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,477,378 (GRCm39) |
L35Q |
probably damaging |
Het |
| Tekt2 |
T |
C |
4: 126,216,610 (GRCm39) |
|
probably null |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,370,262 (GRCm39) |
S301G |
probably benign |
Het |
| Tnrc18 |
A |
T |
5: 142,762,079 (GRCm39) |
N515K |
unknown |
Het |
| Togaram1 |
A |
G |
12: 65,013,709 (GRCm39) |
Y320C |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,717 (GRCm39) |
F174L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,193 (GRCm39) |
D31099N |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,700 (GRCm39) |
L446F |
probably damaging |
Het |
| Utp25 |
T |
A |
1: 192,800,617 (GRCm39) |
K401I |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,089,358 (GRCm39) |
L612P |
probably damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,161 (GRCm39) |
T424M |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,436,382 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Cntn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00538:Cntn3
|
APN |
6 |
102,397,223 (GRCm39) |
nonsense |
probably null |
|
|
IGL00706:Cntn3
|
APN |
6 |
102,180,910 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01071:Cntn3
|
APN |
6 |
102,397,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01769:Cntn3
|
APN |
6 |
102,185,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Cntn3
|
APN |
6 |
102,180,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Cntn3
|
APN |
6 |
102,176,321 (GRCm39) |
splice site |
probably benign |
|
|
IGL02736:Cntn3
|
APN |
6 |
102,180,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02955:Cntn3
|
APN |
6 |
102,255,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Cntn3
|
APN |
6 |
102,145,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03208:Cntn3
|
APN |
6 |
102,164,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0037:Cntn3
|
UTSW |
6 |
102,186,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Cntn3
|
UTSW |
6 |
102,441,527 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0314:Cntn3
|
UTSW |
6 |
102,397,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0388:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0483:Cntn3
|
UTSW |
6 |
102,180,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0543:Cntn3
|
UTSW |
6 |
102,246,051 (GRCm39) |
splice site |
probably benign |
|
|
R0629:Cntn3
|
UTSW |
6 |
102,180,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0693:Cntn3
|
UTSW |
6 |
102,145,908 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0781:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1110:Cntn3
|
UTSW |
6 |
102,222,119 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1144:Cntn3
|
UTSW |
6 |
102,219,087 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1503:Cntn3
|
UTSW |
6 |
102,441,526 (GRCm39) |
nonsense |
probably null |
|
|
R1640:Cntn3
|
UTSW |
6 |
102,218,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1681:Cntn3
|
UTSW |
6 |
102,147,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Cntn3
|
UTSW |
6 |
102,246,166 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1782:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1861:Cntn3
|
UTSW |
6 |
102,222,032 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2026:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Cntn3
|
UTSW |
6 |
102,183,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Cntn3
|
UTSW |
6 |
102,180,889 (GRCm39) |
missense |
probably benign |
|
|
R2351:Cntn3
|
UTSW |
6 |
102,314,344 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3611:Cntn3
|
UTSW |
6 |
102,185,038 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4349:Cntn3
|
UTSW |
6 |
102,176,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Cntn3
|
UTSW |
6 |
102,441,508 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4513:Cntn3
|
UTSW |
6 |
102,145,943 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4678:Cntn3
|
UTSW |
6 |
102,180,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Cntn3
|
UTSW |
6 |
102,142,292 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4720:Cntn3
|
UTSW |
6 |
102,218,983 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4879:Cntn3
|
UTSW |
6 |
102,244,389 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4951:Cntn3
|
UTSW |
6 |
102,145,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5410:Cntn3
|
UTSW |
6 |
102,255,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5502:Cntn3
|
UTSW |
6 |
102,242,295 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5852:Cntn3
|
UTSW |
6 |
102,397,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Cntn3
|
UTSW |
6 |
102,219,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6193:Cntn3
|
UTSW |
6 |
102,185,092 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6258:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6260:Cntn3
|
UTSW |
6 |
102,254,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6350:Cntn3
|
UTSW |
6 |
102,147,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Cntn3
|
UTSW |
6 |
102,255,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6993:Cntn3
|
UTSW |
6 |
102,255,365 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Cntn3
|
UTSW |
6 |
102,250,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7085:Cntn3
|
UTSW |
6 |
102,142,362 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7174:Cntn3
|
UTSW |
6 |
102,142,305 (GRCm39) |
missense |
probably benign |
|
|
R7208:Cntn3
|
UTSW |
6 |
102,255,383 (GRCm39) |
nonsense |
probably null |
|
|
R7395:Cntn3
|
UTSW |
6 |
102,314,355 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7447:Cntn3
|
UTSW |
6 |
102,255,416 (GRCm39) |
nonsense |
probably null |
|
|
R7571:Cntn3
|
UTSW |
6 |
102,255,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Cntn3
|
UTSW |
6 |
102,397,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Cntn3
|
UTSW |
6 |
102,142,337 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7697:Cntn3
|
UTSW |
6 |
102,185,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Cntn3
|
UTSW |
6 |
102,242,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8011:Cntn3
|
UTSW |
6 |
102,414,860 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8013:Cntn3
|
UTSW |
6 |
102,176,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8377:Cntn3
|
UTSW |
6 |
102,186,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8726:Cntn3
|
UTSW |
6 |
102,146,014 (GRCm39) |
nonsense |
probably null |
|
|
R8770:Cntn3
|
UTSW |
6 |
102,254,277 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8827:Cntn3
|
UTSW |
6 |
102,246,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8947:Cntn3
|
UTSW |
6 |
102,414,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cntn3
|
UTSW |
6 |
102,181,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9055:Cntn3
|
UTSW |
6 |
102,244,398 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9061:Cntn3
|
UTSW |
6 |
102,314,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9758:Cntn3
|
UTSW |
6 |
102,183,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Cntn3
|
UTSW |
6 |
102,254,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Cntn3
|
UTSW |
6 |
102,397,255 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1176:Cntn3
|
UTSW |
6 |
102,414,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Cntn3
|
UTSW |
6 |
102,314,292 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAACAGAGTTTTGCAGAATAAC -3'
(R):5'- TGCTTGCATCAACGTTCAAG -3'
Sequencing Primer
(F):5'- ACAAAATTAGAACAGACCAGAATCC -3'
(R):5'- GCTTGCATCAACGTTCAAGTTTTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation